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Confined chorionic mosaicism in prenatal diagnosis
D K Kalousek1, F J Dill, T Pantzar
1Department of Pathology, University of British Columbia, Vancouver, Canada.
Human Genetics
|October 1, 1987
Summary
Confined chorionic mosaicism, a condition found in placental tissue, can involve various trisomies. This study highlights its presence in trophectoderm and extra-embryonic mesoderm, emphasizing diagnostic accuracy.
Area of Science:
- Reproductive biology
- Human genetics
- Prenatal diagnostics
Background:
- Confined chorionic mosaicism (CCM) is a chromosomal abnormality detected during prenatal diagnosis.
- It is commonly identified through chorionic villus sampling (CVS) and less frequently in amniotic fluid cell cultures.
Observation:
- Five pregnancies with CCM for trisomies 12, 13, 14, 17, and a marker chromosome were analyzed.
- Cytogenetic findings indicated that mosaicism can be confined to either trophectoderm derivatives or extra-embryonic mesoderm within the chorion.
Findings:
- The study supports the conclusion that chromosomal mosaicism within the chorion can be lineage-specific.
- The etiology of CCM is linked to the contribution of multiple cell lineages during early placental development.
Implications:
- Accurate prenatal diagnosis necessitates the use of both direct and long-term cultures in CVS.
- Confirmatory testing of fetal blood or amniotic fluid is crucial when mosaicism is detected in chorionic villi to rule out fetal involvement.